Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25163 | 75712;75713;75714 | chr2:178570645;178570644;178570643 | chr2:179435372;179435371;179435370 |
| N2AB | 23522 | 70789;70790;70791 | chr2:178570645;178570644;178570643 | chr2:179435372;179435371;179435370 |
| N2A | 22595 | 68008;68009;68010 | chr2:178570645;178570644;178570643 | chr2:179435372;179435371;179435370 |
| N2B | 16098 | 48517;48518;48519 | chr2:178570645;178570644;178570643 | chr2:179435372;179435371;179435370 |
| Novex-1 | 16223 | 48892;48893;48894 | chr2:178570645;178570644;178570643 | chr2:179435372;179435371;179435370 |
| Novex-2 | 16290 | 49093;49094;49095 | chr2:178570645;178570644;178570643 | chr2:179435372;179435371;179435370 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs879020274  |
-0.535 | 0.273 | D | 0.365 | 0.235 | None | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.13E-05 | 0 |
| T/A | rs879020274 |
-0.535 | 0.273 | D | 0.365 | 0.235 | None | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| T/A | rs879020274 |
-0.535 | 0.273 | D | 0.365 | 0.235 | None | gnomAD-4.0.0 | 2.78914E-05 | None | None | None | None | N | None | 1.33526E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.73E-05 | 0 | 0 |
| T/I | rs765157072 |
-0.23 | 0.761 | D | 0.377 | 0.36 | 0.527251791467 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| T/I | rs765157072 |
-0.23 | 0.761 | D | 0.377 | 0.36 | 0.527251791467 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs765157072 |
-0.23 | 0.761 | D | 0.377 | 0.36 | 0.527251791467 | gnomAD-4.0.0 | 2.47937E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47741E-07 | 3.29424E-05 | 0 |
| T/N | None | None | 0.761 | N | 0.363 | 0.285 | 0.483374165343 | gnomAD-4.0.0 | 6.84335E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15945E-05 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1217 | likely_benign | 0.1404 | benign | -0.588 | Destabilizing | 0.273 | N | 0.365 | neutral | D | 0.527421651 | None | None | N |
| T/C | 0.4616 | ambiguous | 0.5833 | pathogenic | -0.316 | Destabilizing | 0.985 | D | 0.463 | neutral | None | None | None | None | N |
| T/D | 0.3237 | likely_benign | 0.4067 | ambiguous | 0.564 | Stabilizing | 0.894 | D | 0.376 | neutral | None | None | None | None | N |
| T/E | 0.4131 | ambiguous | 0.4705 | ambiguous | 0.51 | Stabilizing | 0.809 | D | 0.357 | neutral | None | None | None | None | N |
| T/F | 0.4402 | ambiguous | 0.5352 | ambiguous | -1.075 | Destabilizing | 0.894 | D | 0.56 | neutral | None | None | None | None | N |
| T/G | 0.1906 | likely_benign | 0.2405 | benign | -0.728 | Destabilizing | 0.547 | D | 0.439 | neutral | None | None | None | None | N |
| T/H | 0.3635 | ambiguous | 0.4414 | ambiguous | -0.948 | Destabilizing | 0.985 | D | 0.572 | neutral | None | None | None | None | N |
| T/I | 0.4422 | ambiguous | 0.5193 | ambiguous | -0.331 | Destabilizing | 0.761 | D | 0.377 | neutral | D | 0.534483696 | None | None | N |
| T/K | 0.2775 | likely_benign | 0.3328 | benign | -0.248 | Destabilizing | 0.809 | D | 0.369 | neutral | None | None | None | None | N |
| T/L | 0.1793 | likely_benign | 0.214 | benign | -0.331 | Destabilizing | 0.293 | N | 0.338 | neutral | None | None | None | None | N |
| T/M | 0.1549 | likely_benign | 0.175 | benign | -0.187 | Destabilizing | 0.332 | N | 0.307 | neutral | None | None | None | None | N |
| T/N | 0.1181 | likely_benign | 0.1429 | benign | -0.099 | Destabilizing | 0.761 | D | 0.363 | neutral | N | 0.483401832 | None | None | N |
| T/P | 0.504 | ambiguous | 0.6036 | pathogenic | -0.388 | Destabilizing | 0.928 | D | 0.432 | neutral | N | 0.498849968 | None | None | N |
| T/Q | 0.3567 | ambiguous | 0.4016 | ambiguous | -0.252 | Destabilizing | 0.894 | D | 0.424 | neutral | None | None | None | None | N |
| T/R | 0.2347 | likely_benign | 0.2817 | benign | -0.041 | Destabilizing | 0.894 | D | 0.431 | neutral | None | None | None | None | N |
| T/S | 0.0883 | likely_benign | 0.1033 | benign | -0.395 | Destabilizing | 0.006 | N | 0.292 | neutral | N | 0.5171273 | None | None | N |
| T/V | 0.2897 | likely_benign | 0.3426 | ambiguous | -0.388 | Destabilizing | 0.547 | D | 0.337 | neutral | None | None | None | None | N |
| T/W | 0.7238 | likely_pathogenic | 0.8133 | pathogenic | -1.055 | Destabilizing | 0.995 | D | 0.609 | neutral | None | None | None | None | N |
| T/Y | 0.4543 | ambiguous | 0.5753 | pathogenic | -0.772 | Destabilizing | 0.945 | D | 0.565 | neutral | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.